Duchenne muscular dystrophy
RSS feedThe lysosome, a potential therapeutic target in DMD
Researchers from the Institute of Myology and GĂ©nĂ©thon report pioneering work in the treatment of Duchenne muscular dystrophy (DMD): they started from the observation that the muscle fibres of DMD patients and their murine counterparts showed lysosomal abnormalities, which are also accompanied by overexpression of Galectin-3, a key protein in lysosomal function. By using trehalose, … [Read more]
Towards better reuse of patient data in DMD
A consortium bringing together patient associations, clinicians and methodologists from several countries reports on the FAIR project, which aims to better coordinate and standardise registries of patients with Duchenne muscular dystrophy (DMD): it is based on the Findable, Accessible, Interoperable and Reusable (FAIR) use of patient data, it is part of a larger ten-step project … [Read more]
The use of CAR-T cells to support gene therapy in DMD
Researchers from GĂ©nĂ©thon (Evry) used genetically modified T lymphocytes (FAP-type CAR-T) to improve gene-drug transfers via adeno-associated viruses (AAV) in gene therapy: after two injections, these CAR-T cells were found to be capable of reducing the fibrotic phenomena observed in the mouse model of Duchenne muscular dystrophy (DMD), they enable the depletion of progenitor cells … [Read more]
Neurodevelopmental disorders quantified in DMD
While the impact of Duchenne muscular dystrophy (DMD) on patients’ cognition is well known, an Italian team focused specifically on the prevalence of neurodevelopmental disorders in these patients. A retrospective analysis of the clinical characteristics and psychological assessments of 264 boys (aged six years or older) and men with DMD yielded the following results: nearly … [Read more]
A plea for neonatal screening for DMD
In a comprehensive article, American specialists analyse practices and prospects for newborn screening for Duchenne muscular dystrophy in the United States: this screening is technically feasible and is based on creatine phosphokinase (CPK) testing in the first days of life, confirmed by DMD gene testing, from August 2023, the Federal Committee responsible for proposing recommendations … [Read more]
Sustainable cardioprotection with utrophin in DMD
Scientists have evaluated a gene therapy based on micro-utrophin, a protein similar to dystrophin, which is deficient in Duchenne muscular dystrophy (DMD). This therapy was administered to mice models of the disease, exposed to pharmacological and exercise-related stress. The therapy provided protection against cardiac damage, as evidenced in particular by a decrease in troponin levels. … [Read more]
Unfavorable opinion on marketing authorisation and suspension of clinical trials in Europe for Elevidys in DMD
Over the summer, the European Medicines Agency (EMA) issued an unfavourable opinion on the conditional marketing authorisation of Elevidys, a microdystrophin gene therapy for ambulatory patients aged 3 to 7 years with Duchenne muscular dystrophy (DMD). This opinion, which must be ratified by the European Commission, is based on insufficient data on the treatment’s efficacy … [Read more]
Review of current and emerging therapeutic strategies in DMD
Duchenne muscular dystrophy (DMD) is a serious, progressive genetic disorder. It is caused by mutations in the DMD gene that result in the absence of dystrophin, an essential structural protein of the sarcolemma. This weakens the sarcolemmal membrane and makes it highly sensitive to mechanical stress. The heart muscle suffers degenerative alterations similar to those … [Read more]
Advances in Duchenne muscular dystrophy and Becker muscular dystrophy – 2025
This document presents a selection of Duchenne muscular dystrophy and Becker muscular dystrophy research news stories from the past year (ongoing observational studies and clinical trials, scientific and medical publications, etc.). Access the document Advances in Duchenne muscular dystrophy and Becker muscular dystrophy – 2025
UK recommendations to improve orthopedic care in DMD
A group of British experts has formulated recommendations, approved by the British Society for Children’s Orthopaedic Surgery, aimed at harmonizing and improving orthopedic care for children and young adults with Duchenne muscular dystrophy (DMD). Non-urgent care should be provided in specialized centers, but fractures can be treated by local trauma units if sufficient medical and … [Read more]
